Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000801826 | SCV000941622 | pathogenic | Ellis-van Creveld syndrome; Curry-Hall syndrome | 2018-11-15 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in EVC2 are known to be pathogenic (PMID: 17024374, 19810119, 19876929). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. This variant has not been reported in the literature in individuals with EVC2-related disease. This variant is present in population databases (rs144167138, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Gln1069*) in the EVC2 gene. It is expected to result in an absent or disrupted protein product. |